Ragopathies and the rising influence of RagGTPases on human diseases

I Sambri, M Ferniani, A Ballabio - Nature Communications, 2024 - nature.com
RagGTPases (Rags) play an essential role in the regulation of cell metabolism by controlling
the activities of both mechanistic target of rapamycin complex 1 (mTORC1) and …

New developments in AMPK and mTORC1 cross-talk

WJ Smiles, AJ Ovens, BE Kemp… - Essays in …, 2024 - researchnow.flinders.edu.au
Metabolic homeostasis and the ability to link energy supply to demand are essential
requirements for all living cells to grow and proliferate. Key to metabolic homeostasis in all …

mTORC1 activity licenses its own release from the lysosomal surface

A Acharya, C Demetriades - Molecular Cell, 2024 - cell.com
Nutrient signaling converges on mTORC1, which, in turn, orchestrates a physiological
cellular response. A key determinant of mTORC1 activity is its shuttling between the …

[HTML][HTML] Therapeutic approaches to tuberous sclerosis complex: from available therapies to promising drug targets

E Conte, B Boccanegra, G Dinoi, M Pusch, A De Luca… - Biomolecules, 2024 - mdpi.com
Tuberous sclerosis complex (TSC) is a rare multisystem disorder caused by heterozygous
loss-of-function pathogenic variants in the tumour suppressor genes TSC1 and TSC2 …

Multiparameter quantitative analyses of diagnostic cells in brain tissues from tuberous sclerosis complex

JS Arceneaux, AA Brockman, R Khurana… - Cytometry Part B …, 2024 - Wiley Online Library
The advent of high‐dimensional imaging offers new opportunities to molecularly
characterize diagnostic cells in disorders that have previously relied on histopathological …

mTOR/miR-142-3p/PRAS40 signaling cascade is critical for tuberous sclerosis complex-associated renal cystogenesis

S Zhao, S Hao, J Zhou, X Chen, T Zhang, Z Qi… - Cellular & Molecular …, 2024 - Springer
Background Patients with tuberous sclerosis complex (TSC) develop renal cysts and/or
angiomyolipomas (AMLs) due to inactive mutations of either TSC1 or TSC2 and …

[HTML][HTML] Lymphangioleiomyomatosis and Pregnancy—Do We Have All the Answers for a Woman Who Desires to Conceive?—Literature Review

AA Constantin, AD Gaburici, AN Malaescu, AL Iorga… - Cancers, 2025 - mdpi.com
Lymphangioleiomyomatosis (LAM) is a rare, progressive, and poor-prognosis systemic
disorder that primarily affects women of reproductive age, with a higher prevalence among …

[HTML][HTML] TFE3-Rearranged Tumors of the Kidney: An Emerging Conundrum

A Caliò, S Marletta, M Brunelli, P Antonini… - …, 2024 - pmc.ncbi.nlm.nih.gov
Simple Summary The characterization of molecular alterations is continuously gaining
relevance in pathology as it can contribute to explaining tumors' pathogenesis and address …

Genetic validation of a TSC2 immunohistochemistry assay in TSC/mTOR-pathway altered renal tumors

A Akbari, CR Villanueva, O Hes, SR Williamson… - Human pathology, 2024 - Elsevier
Pathogenic mutations in the genes associated with tuberous sclerosis complex (TSC)/mTOR
pathway are linked to histologically diverse renal cell neoplasms, including eosinophilic …

The Spectrum of Renal “TFEopathies”: Flipping the mTOR Switch in Renal Tumorigenesis

N Alesi, K Asrani, TL Lotan, EP Henske - Physiology, 2024 - journals.physiology.org
The mammalian target of Rapamycin complex 1 (mTORC1) is a serine/threonine kinase that
couples nutrient and growth factor signaling to the cellular control of metabolism and plays a …